Neurologic morbidity | Number of autistic patients | Number of non-autistic patients | Median age at seizure onset of the autistic patients (days) | Median age at seizure onset of the non-autistic patients (days) | Whole sample coefficient of variation (%) | Mann-Whitney Z (△ between ranks) | p |
---|---|---|---|---|---|---|---|
Abnormal MRI | 625 | 1704 | 300 | 720 | 156 | 7.4 | 1.1e-13 |
Focal temporal lobe damage | 96 | 299 | 240 | 1825 | 130 | 7.1 | 1.1e-12 |
Cortical dysplasia | 187 | 400 | 210 | 730 | 168 | 5.7 | 1.4e-8 |
Focal frontal lobe damage | 85 | 196 | 240 | 1021 | 147 | 4.5 | 0.000007 |
Subcortical dysplasia | 115 | 206 | 330 | 1020 | 152 | 4.4 | 0.00001 |
Tumor@ | 35 | 114 | 300 | 1806 | 138 | 4.1 | 0.00004 |
Hippocampal sclerosis | 18 | 76 | 210 | 1460 | 118 | 40.0 | 0.00007 |
Nodular periventricular heterotopia | 40 | 53 | 233 | 1020 | 190 | 3.9 | 0.0001 |
Focal parietal lobe damage | 43 | 142 | 180 | 1369 | 163 | 3.6 | 0.0004 |
Focal occipital lobe damage | 27 | 121 | 330 | 1062 | 168 | 3.4 | 0.001 |
Thin corpus callosum | 81 | 142 | 690 | 150 | 185 | -2.9 | 0.004 |
Thick cortex | 10 | 14 | 195 | 1460 | 108 | 2.7 | 0.007 |
Dysembryoplastic neuroepithelial tumor | 7 | 45 | 730 | 2993 | 86 | 2.6 | 0.009 |
Gray/white matter boundary blurring | 9 | 12 | 300 | 1004 | 141 | 2.5 | 0.013 |
Delayed myelination | 50 | 95 | 270 | 120 | 181 | -20.0 | 0.050 |
Arterovenous malformation¢ | 11 | 34 | 210 | 695 | 161 | 1.5 | 0.144 |
Ulegyria | 3 | 9 | 912 | 2555 | 84 | 1.4 | 0.165 |
Cerebellar anomaly+ | 62 | 76 | 635 | 730 | 144 | 1.4 | 0.172 |
Double cortex | 3 | 27 | 1460 | 2190 | 56 | 1.4 | 0.176 |
Encephalomalacia | 7 | 12 | 243 | 874 | 120 | 1.4 | 0.170 |
Hypothalamic hamartoma | 27 | 122 | 365 | 420 | 173 | 1.3 | 0.194 |
Central nervous system cyst△ | 27 | 63 | 365 | 365 | 173 | 1.2 | 0.225 |
Specific white matter anomaly# | 44 | 92 | 390 | 730 | 126 | 1.2 | 0.232 |
Dilated CSF space(s) | 89 | 176 | 474 | 378 | 163 | -1.2 | 0.856 |
Chiari or Dandy Walker malformation | 14 | 18 | 1275 | 1825 | 82 | 0.8 | 0.447 |
Cerebral atrophy | 146 | 301 | 345 | 360 | 183 | 10.0 | 0.296 |
Cerebrovascular accident | 18 | 91 | 315 | 240 | 227 | -10.0 | 0.302 |
Polymicrogyria | 7 | 40 | 570 | 1037 | 129 | 10.0 | 0.310 |
Arachnoid cyst | 14 | 26 | 195 | 365 | 145 | 10.0 | 0.320 |
Gliosis | 13 | 35 | 1132 | 1095 | 145 | -0.8 | 0.403 |
Encephalomalacia | 3 | 14 | 365 | 555 | 129 | 0.8 | 0.432 |
Any gyral/sulcal malformation | 18 | 94 | 1186 | 1095 | 121 | -0.4 | 0.706 |
Schizencephaly or porencephaly | 3 | 20 | 1095 | 1369 | 113 | 0.4 | 0.714 |
Hemimegalencephaly | 8 | 8 | 6 | 30 | 350 | 0.4 | 0.721 |
Subependymal giant cell astrocytoma (SEGA)μ | 22 | 24 | 218 | 240 | 143 | 0.4 | 0.724 |
Lissencephaly | 4 | 6 | 769 | 105 | 160 | -0.2 | 0.831 |
Periventricular leukomalacia | 8 | 25 | 345 | 730 | 107 | 0.1 | 0.950 |
Pachygyria | 10 | 30 | 1642 | 1095 | 114 | -00.0 | 0.963 |
Epileptic condition | Number of autistic patients | Number of non-autistic patients | Median age at seizure onset of the autistic patients (days) | Median age at seizure onset of the non-autistic patients (days) | Whole sample coefficient of variation (%) | Mann-Whitney Z (Δ between ranks) | P |
---|---|---|---|---|---|---|---|
Intractable epilepsy | 1146 | 2923 | 272 | 730 | 147 | 12.0 | 2.9e-33 |
Temporal lobe focus | 128 | 639 | 546 | 1825 | 112 | 7.7 | 1.4e-14 |
Partial seizure | 187 | 828 | 300 | 1095 | 141 | 7.1 | 1.4e-12 |
Generalized tonic/clonic seizure | 621 | 1603 | 365 | 660 | 146 | 5.7 | 1.1 e-8 |
Frontal lobe focus | 132 | 384 | 610 | 1460 | 114 | 5.3 | 1.2e-7 |
Focal seizure (not further specified) | 283 | 861 | 330 | 1095 | 133 | 5.0 | 5.3e-7 |
Absence seizure | 177 | 507 | 700 | 1278 | 106 | 4.5 | 0.000006 |
Status epilepticus awake | 154 | 299 | 240 | 330 | 154 | 2.9 | 0.003 |
ESES/CSWSS | 67 | 439 | 1277 | 1642 | 70 | 2.7 | 0.007 |
Non-refractory epilepsy | 260 | 999 | 390 | 600 | 165 | 2.4 | 0.018 |
Lennox-Gastaut syndrome | 61 | 152 | 395 | 815 | 116 | 2.3 | 0.020 |
Parietal lobe focus | 12 | 39 | 375 | 1825 | 168 | 2.3 | 0.023 |
Infantile spasm | 234 | 364 | 120 | 150 | 183 | 2.2 | 0.027 |
Febrile seizure | 175 | 436 | 270 | 365 | 136 | 2.2 | 0.028 |
Occipital lobe focus | 51 | 175 | 730 | 1095 | 100 | 2.2 | 0.030 |
Tonic seizure | 101 | 236 | 300 | 232 | 158 | -1.9 | 0.064 |
Dravet/SMEI syndrome | 136 | 235 | 180 | 180 | 249 | 1.8 | 0.071 |
West syndrome/hypsarrhythmia | 107 | 186 | 128 | 150 | 205 | 1.7 | 0.092 |
Atonic (drop) seizure | 87 | 172 | 450 | 720 | 101 | 1.6 | 0.114 |
Gastroenteritis-triggered seizure onset | 4 | 178 | 1225 | 570 | 108 | -1.2 | 0.238 |
Ohtahara syndrome/suppression burst | 25 | 60 | 5 | 3 | 265 | 1.0 | 0.930 |
Idiopathic epilepsy | 320 | 1539 | 1460 | 1463 | 106 | 0.9 | 0.384 |
Myoclonic seizure | 211 | 497 | 330 | 365 | 140 | 0.8 | 0.400 |
Vaccine-contiguous seizure onset | 31 | 36 | 180 | 180 | 123 | 0.3 | 0.800 |
Cytogenetic location of the mutation | Number of autistic patients | Number of non-autistic patients | Median age at seizure onset of the autistic patients (days) | Median age at seizure onset of the non-autistic patients (days) | Whole sample coefficient of variation (%) | Mann-Whitney Z (△ between ranks) | p |
---|---|---|---|---|---|---|---|
22q11.2 mutation | 9 | 39 | 1460 | 330 | 131 | -1.6 | 0.114 |
Ring20 mutation | 7 | 52 | 3285 | 2008 | 71 | -1.4 | 0.151 |
7q11.23 mutation | 8 | 22 | 270 | 495 | 146 | 1.3 | 0.188 |
9q21.13 mutation | 8 | 5 | 1607 | 1278 | 74 | -0.8 | 0.419 |
16p11.2 mutation | 7 | 43 | 240 | 180 | 254 | 0.6 | 0.519 |
2q24.3 mutation | 10 | 10 | 38 | 17 | 287 | -0.5 | 0.593 |
Xp22.31 mutation | 3 | 11 | 3650 | 2190 | 66 | -0.5 | 0.640 |
Trisomy-21 | 10 | 8 | 225 | 236 | 85 | 0.4 | 0.655 |
15q13.3 mutation | 5 | 30 | 3285 | 3468 | 64 | 0.1 | 0.906 |
Mutated gene and its cytogenetic location | Number of autistic patients | Number of non-autistic patients | Median age at seizure onset of the autistic patients (days) | Median age at seizure onset of the non-autistic patients (days) | Whole sample coefficient of variation (%) | Mann-Whitney Z (△ between ranks) | p |
---|---|---|---|---|---|---|---|
PCDH19/Xq22.1 mutation | 130 | 192 | 270 | 315 | 127 | 3.1 | 0.002 |
SLC6A8/Xq28 mutation | 18 | 13 | 1278 | 2555 | 75 | 1.3 | 0.185 |
MECP2/Xq28 mutation | 13 | 11 | 1095 | 730 | 101 | -10.0 | 0.361 |
KIAA2022/Xq13.3 mutation | 8 | 4 | 420 | 605 | 110 | 10.0 | 0.368 |
FMR1/Xq27.3 mutation | 10 | 16 | 1460 | 913 | 79 | -0.9 | 0.354 |
SYN1/Xp11.3 mutation | 3 | 8 | 1450 | 3103 | 123 | 0.9 | 0.376 |
CNKSR2/Xp22.12 mutation | 3 | 16 | 730 | 1077 | 78 | 0.9 | 0.392 |
WDR45/Xp11.23 mutation | 3 | 15 | 780 | 450 | 116 | -0.8 | 0.426 |
ARX/Xp21.3 mutation | 5 | 10 | 30 | 120 | 286 | 0.4 | 0.664 |
CDKL5/Xp22.13 mutation | 63 | 35 | 42 | 45 | 343 | 0.3 | 0.747 |
PIGA/Xp22.2 mutation | 5 | 5 | 180 | 150 | 106 | -0.3 | 0.750 |
IQSEC2/Xp11.22 mutation | 16 | 10 | 730 | 730 | 111 | 0.2 | 0.811 |
SPTAN1/9q34.11 mutation | 14 | 5 | 528 | 540 | 141 | 0.1 | 0.888 |
SLC9A6/Xq26.3 mutation | 14 | 5 | 529 | 540 | 136 | 0.1 | 0.888 |
Neurologic morbidity | Number of autistic patients | Number of non-autistic patients | Median age at seizure onset of the autistic patients (days) | Median age at seizure onset of the non-autistic patients (days) | Whole sample coefficient of variation (%) | Mann-Whitney Z (△ between ranks) | p |
---|---|---|---|---|---|---|---|
Epilepsy surgery | 168 | 595 | 210 | 1095 | 138 | 9.2 | 2.4e-20 |
Angelman syndrome phenotype | 91 | 54 | 730 | 1630 | 106 | 3.2 | 0.001 |
Tuberous sclerosis phenotype | 162 | 238 | 180 | 210 | 246 | 3.1 | 0.002 |
Vagus nerve stimulation | 61 | 199 | 365 | 1095 | 124 | 2.6 | 0.009 |
Neonatal adenylosuccinate lyase deficiency | 22 | 8 | 84 | 1460 | 114 | 2.1 | 0.032 |
Kabuki syndrome | 4 | 13 | 195 | 1095 | 87 | 20.0 | 0.045 |
Maternal diabetes | 6 | 6 | 273 | 730 | 77 | 1.9 | 0.053 |
Neonatal pyridoxin deficiency | 13 | 104 | 14 | 2 | 660 | -1.9 | 0.057 |
Neonatal/infantile hypoglycemia | 13 | 51 | 180 | 730 | 100 | 1.9 | 0.059 |
Hypotonia documented at birth | 45 | 49 | 540 | 330 | 143 | -1.9 | 0.062 |
KBG syndrome | 8 | 10 | 2738 | 468 | 84 | -1.8 | 0.074 |
Bainbridge-Ropers syndrome | 5 | 5 | 2190 | 730 | 154 | -1.8 | 0.074 |
Various metabolic syndromes # | 18 | 24 | 278 | 730 | 141 | 1.6 | 0.117 |
Hydrocephaly | 8 | 24 | 210 | 727 | 143 | 1.5 | 0.127 |
Encephalitis | 26 | 69 | 695 | 1450 | 110 | 1.5 | 0.137 |
Low Apgar score (<7) | 4 | 17 | 90 | 453 | 140 | 1.4 | 0.150 |
Microcephaly (OFC)@ | 170 | 254 | 365 | 270 | 162 | -1.4 | 0.174 |
Intellectual deficiency | 950 | 1475 | 360 | 365 | 146 | 1.2 | 0.219 |
Temple-Baraitser syndrome | 3 | 9 | 985 | 270 | 134 | -1.2 | 0.226 |
Cerebrovascular accident | 18 | 91 | 315 | 240 | 227 | -10.0 | 0.302 |
Rett syndrome phenotype | 49 | 26 | 960 | 730 | 112 | -10.0 | 0.330 |
Cornelia De Lange syndrome | 11 | 19 | 1333 | 150 | 128 | -10.0 | 0.331 |
Neonatal folate deficiency | 10 | 17 | 635 | 132 | 133 | -0.9 | 0.393 |
Congenital hyperbilirubinemia | 11 | 9 | 300 | 1095 | 133 | 0.8 | 0.403 |
Nicolaides-Baraitser syndrome | 12 | 19 | 638 | 540 | 118 | -0.8 | 0.428 |
Any severe fetal distress or at birth | 155 | 262 | 450 | 365 | 151 | -0.9 | 0.372 |
Williams-Beuren syndrome | 6 | 16 | 303 | 635 | 138 | 0.9 | 0.376 |
Phelan-McDermid syndrome | 25 | 12 | 2555 | 2008 | 66 | -0.6 | 0.569 |
Asphyxia/anoxia at birth | 28 | 54 | 387 | 348 | 144 | -0.5 | 0.649 |
Autoimmune encephalitis | 3 | 22 | 1934 | 2445 | 60 | 0.3 | 0.738 |
Periventricular leukomalacia | 8 | 16 | 345 | 1004 | 103 | 0.3 | 0.787 |
Macrocephaly (OFC)@ | 40 | 52 | 365 | 870 | 144 | 0.2 | 0.822 |
Various mitochondrial syndromes | 18 | 8 | 450 | 1095 | 123 | 0.2 | 0.845 |
Head trauma | 6 | 33 | 2463 | 2555 | 114 | 00.0 | 0.969 |
Mutated gene and its cytogenetic location | Number of autistic patients | Number of non-autistic patients | Median age at seizure onset of the autistic patients (days) | Median age at seizure onset of the non-autistic patients (days) | Whole sample coefficient of variation (%) | Mann-Whitney Z (△ between ranks) | p |
---|---|---|---|---|---|---|---|
DEPDC5/22q12.2-q12.3 mutation | 8 | 27 | 51 | 1095 | 116 | 3.9 | 0.00009 |
CNTNAP2/7q35-q36 mutation | 10 | 17 | 270 | 730 | 187 | 3.2 | 0.001 |
UBE3A/15q11.2 mutation | 81 | 33 | 730 | 1825 | 108 | 2.6 | 0.010 |
SCN1A/2q24.3 mutation | 126 | 277 | 180 | 180 | 188 | 1.9 | 0.053 |
ASXL3/18q12. 1 mutation | 5 | 5 | 730 | 2190 | 154 | 1.8 | 0.074 |
SLC6A1/3p25.3 mutation | 15 | 23 | 1085 | 540 | 66 | -1.7 | 0.082 |
SCN2A/2q24.3 mutation | 15 | 23 | 6 | 240 | 279 | 1.7 | 0.083 |
PTEN/10q23.31 mutation | 5 | 10 | 42 | 2373 | 132 | 1.7 | 0.085 |
HCN1/5p12 mutation | 6 | 29 | 225 | 270 | 119 | 1.7 | 0.095 |
FOLR1/11q13.4 mutation | 4 | 8 | 1577 | 41 | 148 | -1.7 | 0.109 |
EEF1A2/20q13.33 mutation | 5 | 15 | 120 | 90 | 178 | -1.6 | 0.114 |
PNPO/17q21.32 mutation | 5 | 31 | 5 | 1 | 385 | -1.6 | 0.207 |
HNRNPU/1q44 mutation | 6 | 10 | 318 | 392 | 82 | 1.5 | 0.125 |
KCNA2/1p13.3 mutation | 4 | 14 | 180 | 293 | 207 | 1.5 | 0.134 |
ANKRD11/16q24.3 mutation | 7 | 8 | 1095 | 365 | 98 | -1.5 | 0.143 |
KCNB1/20q13.13 mutation | 12 | 23 | 378 | 270 | 82 | -1.4 | 0.151 |
Miscellaneous mutations | 167 | 455 | 547 | 720 | 146 | 1.4 | 0.163 |
ALDH7A1/5q23.2 mutation | 5 | 25 | 2 | 270 | 223 | 1.3 | 0.195 |
KCNT1/9q34.3 mutation | 7 | 10 | 270 | 913 | 227 | 1.2 | 0.221 |
TSC1/9q34.13 mutation | 6 | 21 | 215 | 540 | 103 | 1.1 | 0.316 |
PACS2/14q32.33 mutation | 4 | 9 | 34 | 4 | 257 | -1.1 | 0.330 |
CUX2/12q24.11-q24.12 mutation | 4 | 7 | 273 | 180 | 200 | -10.0 | 0.412 |
SETD1B/12q24.31 mutation | 9 | 3 | 990 | 180 | 95 | -0.9 | 0.354 |
STXBP1/9q34/mutation | 26 | 39 | 44 | 30 | 152 | -0.9 | 0.355 |
MEF2C/5q14.3 mutation | 16 | 16 | 345 | 300 | 71 | -0.9 | 0.395 |
GABRA1/5q34 mutation | 6 | 26 | 330 | 240 | 198 | -0.7 | 0.465 |
NF1/17q11.2 mutation | 4 | 42 | 1004 | 1789 | 116 | 0.7 | 0.486 |
CHD2/15q26.1 mutation | 23 | 35 | 730 | 875 | 94 | 0.6 | 0.528 |
TSC2/16p13.3 mutation | 46 | 50 | 180 | 150 | 267 | -0.5 | 0.605 |
NBEA/13q13.3 mutation | 9 | 6 | 720 | 720 | 139 | 0.5 | 0.607 |
GABRG2/5q34 mutation | 4 | 8 | 405 | 660 | 82 | 0.4 | 0.669 |
MBD5/2q23.1 mutation | 8 | 12 | 560 | 986 | 116 | 0.4 | 0.670 |
FOXG1/14q12 mutation | 3 | 12 | 150 | 180 | 255 | -0.3 | 0.770 |
SPTAN1/9q34.11 mutation | 4 | 23 | 195 | 120 | 211 | -0.3 | 0.756 |
KCNQ3/8q24.22 mutation | 8 | 8 | 900 | 1004 | 90 | 0.3 | 0.792 |
SCN8A/12q13.13 mutation | 16 | 57 | 180 | 165 | 140 | -0.3 | 0.794 |
KCNQ2/20q13.33 mutation | 13 | 60 | 4 | 3 | 282 | -0.2 | 0.838 |
SYNGAP1/6p21.32 mutation | 26 | 34 | 900 | 785 | 75 | -0.2 | 0.840 |
GRIN2A/16p13.2 mutation | 13 | 48 | 1460 | 1460 | 497 | 0.2 | 0.880 |
GABRB3/15q12 mutation | 8 | 4 | 180 | 270 | 226 | 0.1 | 0.898 |
POGZ/1q21.3 mutation | 6 | 9 | 1186 | 912 | 69 | -0.1 | 0.906 |
DNM1/9q34.11 mutation | 5 | 15 | 210 | 210 | 58 | 0.1 | 0.930 |
SHANK3/22q13.33 mutation | 7 | 13 | 2555 | 2555 | 68 | 00.0 | 10.0 |